Early changes in gene expression in two models of Batten disease

Yasser Elshatory, Andrew I. Brooks, Subrata Chattopadhyay, Timothy M. Curran, Praveena Gupta, Vijay Ramalingam, Sandra L. Hofmann, David A. Pearce

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Infantile and juvenile neuronal ceroid lipofuscinosis (NCLs) are progressive neurodegenerative disorders of childhood with distinct ages of clinical onset, but with a similar pathological outcome. Infantile and juvenile NCL are inherited in an autosomal recessive manner due to mutations in the CLN1 and CLN3 genes, respectively. Recently developed Cln1- and Cln3-knockout mouse models share similarities in pathology with the respective human disease. Using oligonucleotide arrays we identified reproducible changes in gene expression in the brains of both 10-week-old Cln1- and Cln3-knockout mice as compared to wild-type controls, and confirmed changes in levels of several of the cognate proteins by immunoblotting. Despite the similarities in pathology, the two mutations affect the expression of different, non-overlapping sets of genes. The possible significance of these changes and the pathological mechanisms underlying NCL diseases are discussed.

Original languageEnglish (US)
Pages (from-to)207-212
Number of pages6
JournalFEBS Letters
Issue number1-3
StatePublished - Mar 13 2003
Externally publishedYes


  • Batten disease
  • CLN1
  • CLN3
  • Gene expression
  • Microarray
  • Neurodegeneration
  • Neuronal ceroid lipofuscinose
  • Palmitoyl-protein thioesterase-1

ASJC Scopus subject areas

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology


Dive into the research topics of 'Early changes in gene expression in two models of Batten disease'. Together they form a unique fingerprint.

Cite this